Marfan Syndrome

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Marfan Syndrome
By:
Jorge Duque
Yanet Enriquez
Arianna Fernandez
Nadia Fefry
Yaneeke Holliman
Answer to the Riddle
John Ritter
Actor.
– Was in a show called Three's Company from 1977-1984.
– In 1993, died from an aortic dissection caused by Marfan
Syndrome.
Rent
– Play created by Jonathan Larson.
– He died in 1996 from an aortic dissection caused by Marfan
Syndrome.
Abraham Lincoln
– was believed to have Marfan Syndrome (long limbs).
–
Disease/Condition
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Named after Antoine Marfan in 1899.
Marfan syndrome is an autosomal dominant genetic disorder
of the connective tissue.
The connective tissue is defective.
It can affect many body systems, structures and organs
including:
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
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the skeleton, eyes, heart and blood vessels, nervous system,
skin, lungs, the dural sac surrounding the spinal cord, and hard
palate.
It affects men, women, and children.
Found among people of all races and ethnic backgrounds.
1 in 5,000 people in the United States have the disorder.
Disorder progresses as the person ages.
Characteristics/
Clinical Manifestation


Unusually long limbs, great stature, or long
toes (or fingers) in proportion to the person's
height,
Predisposition to cardiovascular disease.
Characteristics/
Clinical Manifestation Cont.
John Ritter and Jonathan Larson had problems associated with
the cardiovascular system and both died from aortic dissection.
–
Most people with Marfan syndrome have problems
associated with the cardiovascular system: the heart and
blood vessels.
 The valve between the left chambers of the heart is
defective and may be large and floppy.
 The valve may leak, creating a "heart murmur,"
 Symptoms include shortness of breath, fatigue and
palpitations (a very fast or irregular heart rate).
 The wall of the aorta may be weakened and stretch, a
process called aortic dilation.
 Aortic dilation increases the risk that the aorta will tear
(dissect) or rupture, causing serious heart problems or
sometimes sudden death (aortic dissection).
Characteristics/
Clinical Manifestation Cont.

Abraham Lincoln was believed to have
Marfan Syndrome due to problems
associated with the Skeleton.
–
Typically, but not always, very tall or taller with
slender and loose jointed.

Affects the long bones of the skeleton.
–
Therefore the arms, legs, fingers, and toes may be
disproportionately long in relation to the rest of the body
– Long, narrow face, and the roof of the mouth may be
arched, causing the teeth to be crowded.
– Other skeletal abnormalities include a sternum
(breastbone) that is either protruding or indented,
curvature of the spine (scoliosis), and flat feet.
Treatment

Treatment options can minimize and sometimes
prevent complications.

Heart and blood vessels–
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Regular checkups and echocardiograms
The earlier a potential problem is identified and treated, the
lower the risk of life-threatening complications.
Wear a medical alert bracelet and to go to the emergency
room if they experience chest, back or abdominal pain.
Drugs such as beta-blockers,
Surgery
Following heart surgery, extreme care must be followed to
prevent endocarditis.
Dentists should be alerted to this risk.
Treatment (Cont.)

Skeletal–
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Annual evaluations are important to detect any
changes in the spine or breastbone (sternum).
In some cases, an orthopedic brace or surgery
may be recommended.
References
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Information retrieved from Google search using the
key word “Marfan Syndrome” on May 14, 2007.
Web Sites:
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http://www.marfan.org/
http://www.allaboutarthritis.com/image/stock_image/marfan
_syndrome02.jpg
http://www.medstudents.com.br/original/revisao/marfan/marf
an.jpg
http://www.google.com/search?source=ig&hl=en&q=marfan
+syndrome
http://en.wikipedia.org/wiki/Marfan_syndrome
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